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dbSNP Short Genetic Variations

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs7517847

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr1:67215986 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.37321 (46863/125568, TOPMED)
G=0.3828 (30122/78698, PAGE_STUDY)
G=0.3738 (11711/31332, GnomAD) (+ 6 more)
G=0.356 (1783/5008, 1000G)
G=0.436 (1953/4480, Estonian)
G=0.451 (1737/3854, ALSPAC)
G=0.439 (1627/3708, TWINSUK)
G=0.46 (274/600, NorthernSweden)
G=0.44 (95/214, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
IL23R : Intron Variant
Publications
88 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 1 NC_000001.11:g.67215986T>G
GRCh37.p13 chr 1 NC_000001.10:g.67681669T>G
IL23R RefSeqGene NG_011498.1:g.54501T>G
Gene: IL23R, interleukin 23 receptor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
IL23R transcript NM_144701.3:c. N/A Intron Variant
IL23R transcript variant X3 XM_005270516.2:c. N/A Intron Variant
IL23R transcript variant X1 XM_011540790.3:c. N/A Intron Variant
IL23R transcript variant X2 XM_011540791.3:c. N/A Intron Variant
IL23R transcript variant X4 XR_001736993.1:n. N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
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Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 T=0.62679 G=0.37321
The PAGE Study Global Study-wide 78698 T=0.6172 G=0.3828
The PAGE Study AfricanAmerican Sub 32512 T=0.7852 G=0.2148
The PAGE Study Mexican Sub 10810 T=0.3633 G=0.6367
The PAGE Study Asian Sub 8318 T=0.549 G=0.451
The PAGE Study PuertoRican Sub 7918 T=0.561 G=0.439
The PAGE Study NativeHawaiian Sub 4534 T=0.439 G=0.561
The PAGE Study Cuban Sub 4230 T=0.594 G=0.406
The PAGE Study Dominican Sub 3828 T=0.664 G=0.336
The PAGE Study CentralAmerican Sub 2450 T=0.427 G=0.573
The PAGE Study SouthAmerican Sub 1982 T=0.392 G=0.608
The PAGE Study NativeAmerican Sub 1260 T=0.511 G=0.489
The PAGE Study SouthAsian Sub 856 T=0.70 G=0.30
gnomAD - Genomes Global Study-wide 31332 T=0.6262 G=0.3738
gnomAD - Genomes European Sub 18856 T=0.5645 G=0.4355
gnomAD - Genomes African Sub 8702 T=0.805 G=0.195
gnomAD - Genomes East Asian Sub 1552 T=0.551 G=0.449
gnomAD - Genomes Other Sub 1086 T=0.554 G=0.446
gnomAD - Genomes American Sub 846 T=0.38 G=0.62
gnomAD - Genomes Ashkenazi Jewish Sub 290 T=0.68 G=0.32
1000Genomes Global Study-wide 5008 T=0.644 G=0.356
1000Genomes African Sub 1322 T=0.837 G=0.163
1000Genomes East Asian Sub 1008 T=0.576 G=0.424
1000Genomes Europe Sub 1006 T=0.580 G=0.420
1000Genomes South Asian Sub 978 T=0.67 G=0.33
1000Genomes American Sub 694 T=0.43 G=0.57
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.564 G=0.436
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.549 G=0.451
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.561 G=0.439
Northern Sweden ACPOP Study-wide 600 T=0.54 G=0.46
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.56 G=0.44
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= G Note
GRCh38.p12 chr 1 NC_000001.11:g.67215986= NC_000001.11:g.67215986T>G
GRCh37.p13 chr 1 NC_000001.10:g.67681669= NC_000001.10:g.67681669T>G
IL23R RefSeqGene NG_011498.1:g.54501= NG_011498.1:g.54501T>G
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

122 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11353215 Jul 11, 2003 (116)
2 ILLUMINA ss66626387 Dec 01, 2006 (127)
3 ILLUMINA ss67584671 Dec 01, 2006 (127)
4 ILLUMINA ss67967246 Dec 01, 2006 (127)
5 ILLUMINA ss70930858 May 26, 2008 (130)
6 ILLUMINA ss71532454 May 18, 2007 (127)
7 ILLUMINA ss75453839 Dec 07, 2007 (129)
8 ILLUMINA ss79258941 Dec 16, 2007 (130)
9 KRIBB_YJKIM ss84670898 Dec 16, 2007 (130)
10 BCMHGSC_JDW ss87510574 Mar 23, 2008 (129)
11 BGI ss102749506 Dec 01, 2009 (131)
12 1000GENOMES ss108277023 Jan 23, 2009 (130)
13 1000GENOMES ss110581813 Jan 25, 2009 (130)
14 ILLUMINA-UK ss118770008 Feb 14, 2009 (130)
15 ILLUMINA ss122768259 Dec 01, 2009 (131)
16 ENSEMBL ss137986212 Dec 01, 2009 (131)
17 ILLUMINA ss154427192 Dec 01, 2009 (131)
18 ILLUMINA ss159602308 Dec 01, 2009 (131)
19 ILLUMINA ss160883597 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss163475848 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss164472269 Jul 04, 2010 (132)
22 ILLUMINA ss172299068 Jul 04, 2010 (132)
23 ILLUMINA ss174393580 Jul 04, 2010 (132)
24 BUSHMAN ss198569383 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss205250338 Jul 04, 2010 (132)
26 1000GENOMES ss218432170 Jul 14, 2010 (132)
27 1000GENOMES ss230569279 Jul 14, 2010 (132)
28 1000GENOMES ss238257152 Jul 15, 2010 (132)
29 ILLUMINA ss244309673 Jul 04, 2010 (132)
30 BL ss253155978 May 09, 2011 (134)
31 GMI ss275860544 May 04, 2012 (137)
32 GMI ss284065399 Apr 25, 2013 (138)
33 ILLUMINA ss481578628 May 04, 2012 (137)
34 ILLUMINA ss481608461 May 04, 2012 (137)
35 ILLUMINA ss482579728 Sep 08, 2015 (146)
36 ILLUMINA ss485584298 May 04, 2012 (137)
37 EXOME_CHIP ss491295235 May 04, 2012 (137)
38 ILLUMINA ss537476588 Sep 08, 2015 (146)
39 TISHKOFF ss554208791 Apr 25, 2013 (138)
40 SSMP ss648083743 Apr 25, 2013 (138)
41 ILLUMINA ss778975934 Aug 21, 2014 (142)
42 ILLUMINA ss780686563 Aug 21, 2014 (142)
43 ILLUMINA ss783237753 Aug 21, 2014 (142)
44 ILLUMINA ss783360089 Aug 21, 2014 (142)
45 ILLUMINA ss784191680 Aug 21, 2014 (142)
46 ILLUMINA ss825589459 Apr 01, 2015 (144)
47 ILLUMINA ss832498280 Apr 01, 2015 (144)
48 ILLUMINA ss833113306 Aug 21, 2014 (142)
49 ILLUMINA ss833704134 Aug 21, 2014 (142)
50 ILLUMINA ss834438040 Aug 21, 2014 (142)
51 EVA-GONL ss975249279 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1067955671 Aug 21, 2014 (142)
53 1000GENOMES ss1291230868 Aug 21, 2014 (142)
54 HAMMER_LAB ss1397248524 Sep 08, 2015 (146)
55 EVA_GENOME_DK ss1574121927 Apr 01, 2015 (144)
56 EVA_DECODE ss1584618838 Apr 01, 2015 (144)
57 EVA_UK10K_ALSPAC ss1600354235 Apr 01, 2015 (144)
58 EVA_UK10K_TWINSUK ss1643348268 Apr 01, 2015 (144)
59 EVA_SVP ss1712340419 Apr 01, 2015 (144)
60 ILLUMINA ss1751930322 Sep 08, 2015 (146)
61 ILLUMINA ss1751930323 Sep 08, 2015 (146)
62 HAMMER_LAB ss1794498739 Sep 08, 2015 (146)
63 ILLUMINA ss1917729929 Feb 12, 2016 (147)
64 WEILL_CORNELL_DGM ss1918457184 Feb 12, 2016 (147)
65 ILLUMINA ss1945997810 Feb 12, 2016 (147)
66 ILLUMINA ss1958280900 Feb 12, 2016 (147)
67 GENOMED ss1966767104 Jul 19, 2016 (147)
68 JJLAB ss2019745976 Sep 14, 2016 (149)
69 ILLUMINA ss2094842568 Dec 20, 2016 (150)
70 ILLUMINA ss2094960833 Dec 20, 2016 (150)
71 ILLUMINA ss2094960836 Dec 20, 2016 (150)
72 USC_VALOUEV ss2147761881 Dec 20, 2016 (150)
73 HUMAN_LONGEVITY ss2163210034 Dec 20, 2016 (150)
74 TOPMED ss2325466072 Dec 20, 2016 (150)
75 SYSTEMSBIOZJU ss2624386728 Nov 08, 2017 (151)
76 ILLUMINA ss2632527129 Nov 08, 2017 (151)
77 ILLUMINA ss2634999348 Nov 08, 2017 (151)
78 GRF ss2697679591 Nov 08, 2017 (151)
79 GNOMAD ss2756102930 Nov 08, 2017 (151)
80 AFFY ss2984862897 Nov 08, 2017 (151)
81 AFFY ss2985515500 Nov 08, 2017 (151)
82 SWEGEN ss2986952401 Nov 08, 2017 (151)
83 ILLUMINA ss3021096117 Nov 08, 2017 (151)
84 BIOINF_KMB_FNS_UNIBA ss3023634797 Nov 08, 2017 (151)
85 TOPMED ss3078841102 Nov 08, 2017 (151)
86 CSHL ss3343494048 Nov 08, 2017 (151)
87 ILLUMINA ss3626117895 Oct 11, 2018 (152)
88 ILLUMINA ss3626117896 Oct 11, 2018 (152)
89 ILLUMINA ss3630562721 Oct 11, 2018 (152)
90 ILLUMINA ss3632894982 Oct 11, 2018 (152)
91 ILLUMINA ss3633589694 Oct 11, 2018 (152)
92 ILLUMINA ss3634329053 Oct 11, 2018 (152)
93 ILLUMINA ss3634329054 Oct 11, 2018 (152)
94 ILLUMINA ss3635283488 Oct 11, 2018 (152)
95 ILLUMINA ss3636005502 Oct 11, 2018 (152)
96 ILLUMINA ss3637033913 Oct 11, 2018 (152)
97 ILLUMINA ss3637762189 Oct 11, 2018 (152)
98 ILLUMINA ss3638900044 Oct 11, 2018 (152)
99 ILLUMINA ss3639447647 Oct 11, 2018 (152)
100 ILLUMINA ss3640036414 Oct 11, 2018 (152)
101 ILLUMINA ss3640036415 Oct 11, 2018 (152)
102 ILLUMINA ss3642773833 Oct 11, 2018 (152)
103 ILLUMINA ss3644493733 Oct 11, 2018 (152)
104 ILLUMINA ss3651423420 Oct 11, 2018 (152)
105 ILLUMINA ss3651423421 Oct 11, 2018 (152)
106 ILLUMINA ss3651423422 Oct 11, 2018 (152)
107 ILLUMINA ss3653634982 Oct 11, 2018 (152)
108 EGCUT_WGS ss3655022682 Jul 12, 2019 (153)
109 EVA_DECODE ss3686938191 Jul 12, 2019 (153)
110 ILLUMINA ss3725032181 Jul 12, 2019 (153)
111 ACPOP ss3727121626 Jul 12, 2019 (153)
112 ILLUMINA ss3744346883 Jul 12, 2019 (153)
113 ILLUMINA ss3744630041 Jul 12, 2019 (153)
114 ILLUMINA ss3744630042 Jul 12, 2019 (153)
115 EVA ss3746309310 Jul 12, 2019 (153)
116 PAGE_CC ss3770815248 Jul 12, 2019 (153)
117 ILLUMINA ss3772131352 Jul 12, 2019 (153)
118 ILLUMINA ss3772131353 Jul 12, 2019 (153)
119 PACBIO ss3783433623 Jul 12, 2019 (153)
120 PACBIO ss3789088127 Jul 12, 2019 (153)
121 PACBIO ss3793960907 Jul 12, 2019 (153)
122 KHV_HUMAN_GENOMES ss3799316128 Jul 12, 2019 (153)
123 1000Genomes NC_000001.10 - 67681669 Oct 11, 2018 (152)
124 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 67681669 Oct 11, 2018 (152)
125 Genetic variation in the Estonian population NC_000001.10 - 67681669 Oct 11, 2018 (152)
126 gnomAD - Genomes NC_000001.10 - 67681669 Jul 12, 2019 (153)
127 Northern Sweden NC_000001.10 - 67681669 Jul 12, 2019 (153)
128 The PAGE Study NC_000001.11 - 67215986 Jul 12, 2019 (153)
129 TopMed NC_000001.11 - 67215986 Oct 11, 2018 (152)
130 UK 10K study - Twins NC_000001.10 - 67681669 Oct 11, 2018 (152)
131 A Vietnamese Genetic Variation Database NC_000001.10 - 67681669 Jul 12, 2019 (153)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs61230446 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638900044, ss3639447647 NC_000001.8:67393689:T:G NC_000001.11:67215985:T:G (self)
ss87510574, ss108277023, ss110581813, ss118770008, ss160883597, ss163475848, ss164472269, ss198569383, ss205250338, ss244309673, ss253155978, ss275860544, ss284065399, ss481578628, ss825589459, ss1397248524, ss1584618838, ss1712340419, ss2094842568, ss2634999348, ss3642773833 NC_000001.9:67454256:T:G NC_000001.11:67215985:T:G (self)
1961367, 1074596, 760930, 5364028, 406491, 1074596, 225263, ss218432170, ss230569279, ss238257152, ss481608461, ss482579728, ss485584298, ss491295235, ss537476588, ss554208791, ss648083743, ss778975934, ss780686563, ss783237753, ss783360089, ss784191680, ss832498280, ss833113306, ss833704134, ss834438040, ss975249279, ss1067955671, ss1291230868, ss1574121927, ss1600354235, ss1643348268, ss1751930322, ss1751930323, ss1794498739, ss1917729929, ss1918457184, ss1945997810, ss1958280900, ss1966767104, ss2019745976, ss2094960833, ss2094960836, ss2147761881, ss2325466072, ss2624386728, ss2632527129, ss2697679591, ss2756102930, ss2984862897, ss2985515500, ss2986952401, ss3021096117, ss3343494048, ss3626117895, ss3626117896, ss3630562721, ss3632894982, ss3633589694, ss3634329053, ss3634329054, ss3635283488, ss3636005502, ss3637033913, ss3637762189, ss3640036414, ss3640036415, ss3644493733, ss3651423420, ss3651423421, ss3651423422, ss3653634982, ss3655022682, ss3727121626, ss3744346883, ss3744630041, ss3744630042, ss3746309310, ss3772131352, ss3772131353, ss3783433623, ss3789088127, ss3793960907 NC_000001.10:67681668:T:G NC_000001.11:67215985:T:G (self)
36717, 10281268, ss2163210034, ss3023634797, ss3078841102, ss3686938191, ss3725032181, ss3770815248, ss3799316128 NC_000001.11:67215985:T:G NC_000001.11:67215985:T:G (self)
ss11353215 NT_032977.5:20130578:T:G NC_000001.11:67215985:T:G (self)
ss66626387, ss67584671, ss67967246, ss70930858, ss71532454, ss75453839, ss79258941, ss84670898, ss102749506, ss122768259, ss137986212, ss154427192, ss159602308, ss172299068, ss174393580 NT_032977.9:37653586:T:G NC_000001.11:67215985:T:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

88 citations for rs7517847
PMID Title Author Year Journal
17508420 Contribution of the novel inflammatory bowel disease gene IL23R to disease susceptibility and phenotype. Cummings JR et al. 2007 Inflammatory bowel diseases
17678723 Investigation of the IL23R gene in a Spanish rheumatoid arthritis cohort. Orozco G et al. 2007 Human immunology
17786191 rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants. Glas J et al. 2007 PloS one
17901940 Association analysis of IL-12B and IL-23R polymorphisms in myocardial infarction. Mangino M et al. 2008 Journal of molecular medicine (Berlin, Germany)
17924341 Fine mapping versus replication in whole-genome association studies. Clarke GM et al. 2007 American journal of human genetics
18047539 Association between genetic variants in the IL-23R gene and early-onset Crohn's disease: results from a case-control and family-based study among Canadian children. Amre DK et al. 2008 The American journal of gastroenterology
18200510 CARD15 and IL23R influences Crohn's disease susceptibility but not disease phenotype in a Brazilian population. Baptista ML et al. 2008 Inflammatory bowel diseases
18368064 IL23R: a susceptibility locus for celiac disease and multiple sclerosis? Núñez C et al. 2008 Genes and immunity
18383521 IL23R and IL12B polymorphisms in Spanish IBD patients: no evidence of interaction. Márquez A et al. 2008 Inflammatory bowel diseases
18698678 Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy. Latiano A et al. 2008 World journal of gastroenterology
19034457 Lack of association between interleukin 23 receptor gene polymorphisms and rheumatoid arthritis susceptibility. Park JH et al. 2009 Rheumatology international
19175939 IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease. Einarsdottir E et al. 2009 BMC medical genetics
19306001 No association between interleukin 23 receptor gene polymorphisms and systemic lupus erythematosus. Kim HS et al. 2009 Rheumatology international
19468064 Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions. Fumagalli M et al. 2009 The Journal of experimental medicine
19522770 Variants of the IL23R gene are associated with ankylosing spondylitis but not with Sjögren syndrome in Hungarian population samples. Sáfrány E et al. 2009 Scandinavian journal of immunology
19757086 Interleukin-23 receptor gene variants in Hungarian systemic lupus erythematosus patients. Safrany E et al. 2010 Inflammation research
19895338 The association between interleukin-23 receptor gene polymorphisms and systemic lupus erythematosus. Li Y et al. 2010 DNA and cell biology
19953089 Differences in genetic background between active smokers, passive smokers, and non-smokers with Crohn's disease. van der Heide F et al. 2010 The American journal of gastroenterology
20116410 Polymorphisms of IL23R and Vogt-Koyanagi-Harada syndrome in a Chinese Han population. Jiang Z et al. 2010 Human immunology
20157760 Interleukin-23 receptor genetic polymorphisms and Crohn's disease susceptibility: a meta-analysis. Li Y et al. 2010 Inflammation research
20192940 Association of the interleukin-23 receptor gene variant rs11209026 with Crohn's disease in German children. Lacher M et al. 2010 Acta paediatrica (Oslo, Norway
20375120 IL-23R gene confers susceptibility to Behcet's disease in a Chinese Han population. Jiang Z et al. 2010 Annals of the rheumatic diseases
20454450 Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset. Glas J et al. 2010 PloS one
20662065 Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. Clancy RM et al. 2010 Arthritis and rheumatism
20833654 Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes. Murphy A et al. 2010 Human molecular genetics
20846217 Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study. Lee JJ et al. 2010 Annals of human genetics
20857526 High prevalence of viable Mycobacterium avium subspecies paratuberculosis in Crohn's disease. Mendoza JL et al. 2010 World journal of gastroenterology
21079743 Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort. Wagner J et al. 2010 PloS one
21090563 Blockade of cytotoxic T-lymphocyte antigen-4 by ipilimumab results in dysregulation of gastrointestinal immunity in patients with advanced melanoma. Berman D et al. 2010 Cancer immunity
21121902 Detecting epistatic SNPs associated with complex diseases via a Bayesian classification tree search method. Chen M et al. 2011 Annals of human genetics
21151597 Polymorphisms of IL23R and Fuchs' syndrome in a Chinese Han population. Zhou H et al. 2010 Molecular vision
21206965 IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes. Lauriola M et al. 2011 International journal of molecular medicine
21253534 IL23R and IL12B SNPs and Haplotypes Strongly Associate with Crohn's Disease Risk in a New Zealand Population. Ferguson LR et al. 2010 Gastroenterology research and practice
21304977 An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians. Juyal G et al. 2011 PloS one
21427131 Improved risk prediction for Crohn's disease with a multi-locus approach. Kang J et al. 2011 Human molecular genetics
21487504 Immunopathogenesis of inflammatory bowel disease. Matricon J et al. 2010 Self/nonself
21548950 Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study. Peter I et al. 2011 BMC medical genetics
21559399 CEACAM6 gene variants in inflammatory bowel disease. Glas J et al. 2011 PloS one
21846945 Association of interleukin 23 receptor gene with sarcoidosis. Kim HS et al. 2011 Disease markers
21858135 Efficient replication of over 180 genetic associations with self-reported medical data. Tung JY et al. 2011 PloS one
22089529 Associations between interleukin-23R polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis. Lee YH et al. 2012 Inflammation research
22123319 A prospective phase II trial exploring the association between tumor microenvironment biomarkers and clinical activity of ipilimumab in advanced melanoma. Hamid O et al. 2011 Journal of translational medicine
22242114 The role of osteopontin (OPN/SPP1) haplotypes in the susceptibility to Crohn's disease. Glas J et al. 2011 PloS one
22346247 Role of ATG16L, NOD2 and IL23R in Crohn's disease pathogenesis. Naser SA et al. 2012 World journal of gastroenterology
22359581 Th17-related genes and celiac disease susceptibility. Medrano LM et al. 2012 PloS one
22378604 Association study of IL10 and IL23R-IL12RB2 in Iranian patients with Behçet's disease. Xavier JM et al. 2012 Arthritis and rheumatism
22457781 PTPN2 gene variants are associated with susceptibility to both Crohn's disease and ulcerative colitis supporting a common genetic disease background. Glas J et al. 2012 PloS one
22479607 Analysis of IL12B gene variants in inflammatory bowel disease. Glas J et al. 2012 PloS one
22718508 Association of interleukin 23 receptor gene polymorphisms (rs10489629, rs7517847) with rheumatoid arthritis in European population: a meta-analysis. Zhai Y et al. 2012 Molecular biology reports
22770979 Presence of multiple independent effects in risk loci of common complex human diseases. Ke X et al. 2012 American journal of human genetics
22984500 Association of single nucleotide polymorphisms of IL23R and IL17 with ulcerative colitis risk in a Chinese Han population. Yu P et al. 2012 PloS one
23053963 Associations between interleukin-23 receptor polymorphisms and susceptibility to rheumatoid arthritis: a meta-analysis. Song GG et al. 2012 Molecular biology reports
23054009 Marked diversity of IL23R gene haplotype variants in rheumatoid arthritis comparing with Crohn's disease and ankylosing spondylitis. Szabo M et al. 2013 Molecular biology reports
23093364 Difference of interleukin-23 receptor gene haplotype variants in ulcerative colitis compared to Crohn's disease and psoriasis. Safrany E et al. 2013 Inflammation research
23300802 PTGER4 expression-modulating polymorphisms in the 5p13.1 region predispose to Crohn's disease and affect NF-κB and XBP1 binding sites. Glas J et al. 2012 PloS one
23365659 IRGM variants and susceptibility to inflammatory bowel disease in the German population. Glas J et al. 2013 PloS one
23564312 Polymorphisms of the IL-23R gene are associated with primary immune thrombocytopenia but not with the clinical outcome of pulsed high-dose dexamethasone therapy. Zhan Y et al. 2013 Annals of hematology
24151497 Association Analysis of IL10, TNF-α, and IL23R-IL12RB2 SNPs with Behçet's Disease Risk in Western Algeria. Khaib Dit Naib O et al. 2013 Frontiers in immunology
24223725 Intestinal DMBT1 expression is modulated by Crohn's disease-associated IL23R variants and by a DMBT1 variant which influences binding of the transcription factors CREB1 and ATF-2. Diegelmann J et al. 2013 PloS one
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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post246+3cda961